Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization
Meiotic segregation patterns of chromosomes 3 and 9 were analyzed in sperm of two translocation carriers (t(3;9)(q26.2;q32) and t(3;9)(p25;q32)) by triple-color fluorescent in situ hybridization (FISH) with a telomeric DNA probe in addition to two centromeric probes. The frequencies of each sperm pr...
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| Veröffentlicht in: | Human genetics 1999-11, Vol.105 (5), p.428-436 |
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| creator | HONDA, H MIHARU, N OHASHI, Y HONDA, N HARA, T OHAMA, K |
| description | Meiotic segregation patterns of chromosomes 3 and 9 were analyzed in sperm of two translocation carriers (t(3;9)(q26.2;q32) and t(3;9)(p25;q32)) by triple-color fluorescent in situ hybridization (FISH) with a telomeric DNA probe in addition to two centromeric probes. The frequencies of each sperm product resulting from alternate or adjacent I, adjacent II and 3:1 segregation in a t(3;9)(q26.2;q32) translocation carrier were 88.35%, 5.44% and 5.94%, respectively. On the other hand, the frequencies of each sperm product in a t(3;9)(p25;q32) translocation carrier were 89.23%, 6.02% and 4.48%, respectively. Of all the sperm products, the frequency of normal or chromosomally balanced sperm in a t(3;9)(q26.2;q32) and a t(3;9)(p25;q32) were 52.49% and 47.25%, respectively. The frequencies of each sperm product resulting from various segregations were different between both carriers and significantly deviated from the expected frequencies. Additional dual-color and triple-color FISH were performed to analyze aneuploidy rates for chromosomes 12, 17, 18, X and Y in order to detect any interchromosomal effect; no evidence of an interchromosomal effect was found. |
| doi_str_mv | 10.1007/s004390051126 |
| format | Article |
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The frequencies of each sperm product resulting from alternate or adjacent I, adjacent II and 3:1 segregation in a t(3;9)(q26.2;q32) translocation carrier were 88.35%, 5.44% and 5.94%, respectively. On the other hand, the frequencies of each sperm product in a t(3;9)(p25;q32) translocation carrier were 89.23%, 6.02% and 4.48%, respectively. Of all the sperm products, the frequency of normal or chromosomally balanced sperm in a t(3;9)(q26.2;q32) and a t(3;9)(p25;q32) were 52.49% and 47.25%, respectively. The frequencies of each sperm product resulting from various segregations were different between both carriers and significantly deviated from the expected frequencies. Additional dual-color and triple-color FISH were performed to analyze aneuploidy rates for chromosomes 12, 17, 18, X and Y in order to detect any interchromosomal effect; no evidence of an interchromosomal effect was found.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s004390051126</identifier><identifier>PMID: 10598808</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Abortion, Habitual - genetics ; Adult ; Aneuploidy ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosomes, Human, Pair 3 - genetics ; Chromosomes, Human, Pair 9 - genetics ; Cytogenetics ; Female ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Heterozygote ; Human ; Humans ; In Situ Hybridization, Fluorescence - methods ; Male ; Meiosis - genetics ; Phenotype ; Pregnancy ; Spermatozoa - ultrastructure ; Translocation, Genetic</subject><ispartof>Human genetics, 1999-11, Vol.105 (5), p.428-436</ispartof><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c318t-5847edec608b061e5252772e791329af9df9053e9748c50dad45f4ec52f33f503</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1196811$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10598808$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>HONDA, H</creatorcontrib><creatorcontrib>MIHARU, N</creatorcontrib><creatorcontrib>OHASHI, Y</creatorcontrib><creatorcontrib>HONDA, N</creatorcontrib><creatorcontrib>HARA, T</creatorcontrib><creatorcontrib>OHAMA, K</creatorcontrib><title>Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Meiotic segregation patterns of chromosomes 3 and 9 were analyzed in sperm of two translocation carriers (t(3;9)(q26.2;q32) and t(3;9)(p25;q32)) by triple-color fluorescent in situ hybridization (FISH) with a telomeric DNA probe in addition to two centromeric probes. The frequencies of each sperm product resulting from alternate or adjacent I, adjacent II and 3:1 segregation in a t(3;9)(q26.2;q32) translocation carrier were 88.35%, 5.44% and 5.94%, respectively. On the other hand, the frequencies of each sperm product in a t(3;9)(p25;q32) translocation carrier were 89.23%, 6.02% and 4.48%, respectively. Of all the sperm products, the frequency of normal or chromosomally balanced sperm in a t(3;9)(q26.2;q32) and a t(3;9)(p25;q32) were 52.49% and 47.25%, respectively. The frequencies of each sperm product resulting from various segregations were different between both carriers and significantly deviated from the expected frequencies. Additional dual-color and triple-color FISH were performed to analyze aneuploidy rates for chromosomes 12, 17, 18, X and Y in order to detect any interchromosomal effect; no evidence of an interchromosomal effect was found.</description><subject>Abortion, Habitual - genetics</subject><subject>Adult</subject><subject>Aneuploidy</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 3 - genetics</subject><subject>Chromosomes, Human, Pair 9 - genetics</subject><subject>Cytogenetics</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Heterozygote</subject><subject>Human</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence - methods</subject><subject>Male</subject><subject>Meiosis - genetics</subject><subject>Phenotype</subject><subject>Pregnancy</subject><subject>Spermatozoa - ultrastructure</subject><subject>Translocation, Genetic</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkUFLHTEUhYO06Kvt0q1kUUTBsTfJZGaCKxGtBaGbdj3kZW40kjeZl8wg05_kr2x874G6CAmXj3NuziHkiMEFA6h_JIBSKADJGK_2yIKVgheMg_hEFiBKKKqa1QfkS0pPAEwqLvfJAQOpmgaaBXm56rWfk0s0WJrwIeKDHl3oqe67fHAafHDdTF1Px-dAIxo3xGC0p2PUffL5ucGNjtFhTOd0PBWX6ux0zasLfrkW_GwjtZsOXG5m53Q5ZwU3eCxM8CFS66cQMRnsDb66JTdO9HFeRte5fxuPr-Sz1T7ht919SP7e3vy5vivuf__8dX11XxjBmrGQTVljh6aCZgkVQ8klr2uOtWKCK21VZxVIgaouGyOh010pbYlGciuElSAOyclWN390PWEa25XLe3mf4whTaislKmBMZLDYgiaGlCLadohupePcMmhfy2k_lJP5453wtFxh947etpGB7ztApxyxzQkbl944pqomG_8HjhqVlg</recordid><startdate>19991101</startdate><enddate>19991101</enddate><creator>HONDA, H</creator><creator>MIHARU, N</creator><creator>OHASHI, Y</creator><creator>HONDA, N</creator><creator>HARA, T</creator><creator>OHAMA, K</creator><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19991101</creationdate><title>Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization</title><author>HONDA, H ; MIHARU, N ; OHASHI, Y ; HONDA, N ; HARA, T ; OHAMA, K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c318t-5847edec608b061e5252772e791329af9df9053e9748c50dad45f4ec52f33f503</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Abortion, Habitual - genetics</topic><topic>Adult</topic><topic>Aneuploidy</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 3 - genetics</topic><topic>Chromosomes, Human, Pair 9 - genetics</topic><topic>Cytogenetics</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Heterozygote</topic><topic>Human</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence - methods</topic><topic>Male</topic><topic>Meiosis - genetics</topic><topic>Phenotype</topic><topic>Pregnancy</topic><topic>Spermatozoa - ultrastructure</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HONDA, H</creatorcontrib><creatorcontrib>MIHARU, N</creatorcontrib><creatorcontrib>OHASHI, Y</creatorcontrib><creatorcontrib>HONDA, N</creatorcontrib><creatorcontrib>HARA, T</creatorcontrib><creatorcontrib>OHAMA, K</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>HONDA, H</au><au>MIHARU, N</au><au>OHASHI, Y</au><au>HONDA, N</au><au>HARA, T</au><au>OHAMA, K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1999-11-01</date><risdate>1999</risdate><volume>105</volume><issue>5</issue><spage>428</spage><epage>436</epage><pages>428-436</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Meiotic segregation patterns of chromosomes 3 and 9 were analyzed in sperm of two translocation carriers (t(3;9)(q26.2;q32) and t(3;9)(p25;q32)) by triple-color fluorescent in situ hybridization (FISH) with a telomeric DNA probe in addition to two centromeric probes. The frequencies of each sperm product resulting from alternate or adjacent I, adjacent II and 3:1 segregation in a t(3;9)(q26.2;q32) translocation carrier were 88.35%, 5.44% and 5.94%, respectively. On the other hand, the frequencies of each sperm product in a t(3;9)(p25;q32) translocation carrier were 89.23%, 6.02% and 4.48%, respectively. Of all the sperm products, the frequency of normal or chromosomally balanced sperm in a t(3;9)(q26.2;q32) and a t(3;9)(p25;q32) were 52.49% and 47.25%, respectively. The frequencies of each sperm product resulting from various segregations were different between both carriers and significantly deviated from the expected frequencies. Additional dual-color and triple-color FISH were performed to analyze aneuploidy rates for chromosomes 12, 17, 18, X and Y in order to detect any interchromosomal effect; no evidence of an interchromosomal effect was found.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>10598808</pmid><doi>10.1007/s004390051126</doi><tpages>9</tpages></addata></record> |
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| subjects | Abortion, Habitual - genetics Adult Aneuploidy Biological and medical sciences Child Child, Preschool Chromosomes, Human, Pair 3 - genetics Chromosomes, Human, Pair 9 - genetics Cytogenetics Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Heterozygote Human Humans In Situ Hybridization, Fluorescence - methods Male Meiosis - genetics Phenotype Pregnancy Spermatozoa - ultrastructure Translocation, Genetic |
| title | Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization |
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